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Links from Nucleotide

Items: 1 to 20 of 23

1.

rs1483933694 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:79209827 (GRCh38)
    15:79502169 (GRCh37)
    Canonical SPDI:
    NC_000015.10:79209826:T:C
    Gene:
    MIR184 (Varview), ANKRD34C-AS1 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1432030800 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      15:79209862 (GRCh38)
      15:79502204 (GRCh37)
      Canonical SPDI:
      NC_000015.10:79209861:A:G,NC_000015.10:79209861:A:T
      Gene:
      MIR184 (Varview), ANKRD34C-AS1 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1387011552 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        15:79209867 (GRCh38)
        15:79502210 (GRCh37)
        Canonical SPDI:
        NC_000015.10:79209867:TT:TTT
        Gene:
        MIR184 (Varview), ANKRD34C-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTT=0./0 (ALFA)
        HGVS:
        4.

        rs1371659418 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          15:79209860 (GRCh38)
          15:79502202 (GRCh37)
          Canonical SPDI:
          NC_000015.10:79209859:GT:
          Gene:
          MIR184 (Varview), ANKRD34C-AS1 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1286094972 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:79209788 (GRCh38)
            15:79502130 (GRCh37)
            Canonical SPDI:
            NC_000015.10:79209787:C:T
            Gene:
            MIR184 (Varview), ANKRD34C-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1249910783 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:79209835 (GRCh38)
              15:79502177 (GRCh37)
              Canonical SPDI:
              NC_000015.10:79209834:A:G
              Gene:
              MIR184 (Varview), ANKRD34C-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0./0 (GnomAD)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1226302067 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                15:79209831 (GRCh38)
                15:79502173 (GRCh37)
                Canonical SPDI:
                NC_000015.10:79209830:T:C
                Gene:
                MIR184 (Varview), ANKRD34C-AS1 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1209142689 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  15:79209822 (GRCh38)
                  15:79502164 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:79209821:C:A
                  Gene:
                  MIR184 (Varview), ANKRD34C-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1202705494 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    15:79209830 (GRCh38)
                    15:79502172 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:79209829:C:G,NC_000015.10:79209829:C:T
                    Gene:
                    MIR184 (Varview), ANKRD34C-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000094/2 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1188399438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      15:79209842 (GRCh38)
                      15:79502184 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:79209841:G:A
                      Gene:
                      MIR184 (Varview), ANKRD34C-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1163218292 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        15:79209858 (GRCh38)
                        15:79502200 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:79209857:G:A,NC_000015.10:79209857:G:C
                        Gene:
                        MIR184 (Varview), ANKRD34C-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1159024206 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          15:79209851 (GRCh38)
                          15:79502193 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:79209850:C:T
                          Gene:
                          MIR184 (Varview), ANKRD34C-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs889440268 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:79209845 (GRCh38)
                            15:79502187 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:79209844:G:A
                            Gene:
                            MIR184 (Varview), ANKRD34C-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs770727021 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              15:79209848 (GRCh38)
                              15:79502191 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:79209848:AA:AAA
                              Gene:
                              MIR184 (Varview), ANKRD34C-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000008/1 (ExAC)
                              HGVS:
                              15.

                              rs761900392 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:79209790 (GRCh38)
                                15:79502132 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:79209789:A:G
                                Gene:
                                MIR184 (Varview), ANKRD34C-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/1 (ExAC)
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs761061695 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  15:79209798 (GRCh38)
                                  15:79502140 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:79209797:C:A
                                  Gene:
                                  MIR184 (Varview), ANKRD34C-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000008/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs754158580 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:79209800 (GRCh38)
                                    15:79502142 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:79209799:C:T
                                    Gene:
                                    MIR184 (Varview), ANKRD34C-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000017/2 (ExAC)
                                    T=0.000024/6 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs751221457 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      15:79209869 (GRCh38)
                                      15:79502211 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:79209868:T:C
                                      Gene:
                                      MIR184 (Varview), ANKRD34C-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000073/3 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000008/1 (ExAC)
                                      C=0.000016/4 (GnomAD_exomes)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs748764383 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->ACGTC [Show Flanks]
                                        Chromosome:
                                        15:79209790 (GRCh38)
                                        15:79502133 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:79209790:GTCACGTC:GTCACGTCACGTC
                                        Gene:
                                        MIR184 (Varview), ANKRD34C-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTCACGTCACGTC=0.000087/2 (ALFA)
                                        GTCAC=0.000017/2 (ExAC)
                                        GTCAC=0.000048/12 (GnomAD_exomes)
                                        GTCAC=0.000078/11 (GnomAD)
                                        GTCAC=0.000091/24 (TOPMED)
                                        HGVS:
                                        20.

                                        rs375355076 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:79209839 (GRCh38)
                                          15:79502181 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:79209838:T:C
                                          Gene:
                                          MIR184 (Varview), ANKRD34C-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000134/6 (ALFA)
                                          C=0./0 (ALSPAC)
                                          C=0.000042/5 (ExAC)
                                          C=0.000068/17 (GnomAD_exomes)
                                          C=0.000097/1 (GoESP)
                                          C=0.000117/31 (TOPMED)
                                          C=0.000135/19 (GnomAD)
                                          C=0.001348/5 (TWINSUK)
                                          HGVS:

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